This page contains information and support for people with Myotonic Dystrophy in Canada.
Canada is a country with a centralized medical system. There is additional support for people with myotonic dystrophy in Quebec, as there is a high incidence of Myotonic Dystrophy in this Country. There is also a center for Congential Myotonic Dystrophy research and Dr. Craig Campbell is an expert in this disease. His contact information is at the end of this post.
Many of us in the Myotonic Dystrophy World find that among the most significant factors affecting us are related to brain function. Depression, Lack of Motivation, Apathy, Indifference, and Loss of executive function makes living much less tolerable. In a nutshell these changes create Terrible problems socially and emotionally. Now researchers have identified the issue that they think causes the disease. The good news is that the mechanism for the brain looks like the mechanism for many of the other issues as well. It’s the same as for muscle and other tissues. So if a cure is found in the future it will not just help with heart and muscle it may help with the most devastating issues that of the Brain as well. At the Recent MDF conference in San Fransisco one potential therapy in early stages may work not only in muscle but if injected into the Spinal fluid might help with brain issues.
Cataracts are a common problem with Myotonic dystrophy. Often it will be the first symptom of the disease. These are easy treatable with replacements often at a low-cost.
Cataract Brochure Myotonic Dystrophy (PDF)
Information on eyes and Dry eyes
| Yichieh Shiuey, MD and Theresa C. Chen, MD Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA |
 |
What type of cataract is this?
Answer: Christmas tree cataract.
What systemic medical condition is classically associated with these lens findings?
Answer: Myotonic dystrophy
What other ocular findings may this patient have?
Answer: Ptosis, orbicularis weakness, progressive external ophthalmoplegia, and pigmentary retinopathy similar to that of Kearn’s Sayre syndrome. Aside from Christmas tree cataracts which contain multicolored iridescent crystals, patients with myotonic dystrophy may also have spokelike cortical opacities along the suture line.
What general physical examination findings may this patient have?
Answer: Myotonia is the often the first detectable physical exam finding. This may be strikingly demonstrated by shaking hands with the patient. The patient may not be able to release his or her grip. Patients with myotonic dystrophy may also have weakness of the limb muscles, particularly the leg extensors. Atrophy of limb muscles may also be apparent on inspection. Men in this condition often have early onset of frontal baldness.
What is the inheritance pattern of this systemic medical condition?
Answer: autosomal dominant
| A Call for Cataract Samples |
| The early appearance of cataracts is an important feature of Myotonic Dystrophy and is often the only obvious symptom in those only mildly affected. This suggests that the lens of the eye is particularly sensitive to Myotonic Dystrophy making it an important target for research.The Norwich Eye Research Groupheaded by Professor George Duncan is one of the foremost centres for lens research in the world. The causes of cataract as well as the development of improved treatments are the central themes of our work. As a member of the group I am heading the Cataract in Myotonic Dystrophy Project.To carry out our research we would like to obtain tissue samples from people with Myotonic Dystrophy. During a normal cataract operation a small piece of tissue is removed from the front of the lens and discarded by the surgeon. At no inconvenience to the patient this small piece of tissue, can be preserved and would be sufficient for us to carry out some extremely valuable work. Not only will it help us to understand how Myotonic Dystrophy causes cataract in the lens but it could give us more fundamental information about the disease as a whole.
Without your support this type of research would not be possible. So can I ask that if you are considering having a cataract operation you contact us either directly here in Norwich (j.rhodes@uea.ac.uk) or via the Myotonic Dystrophy Foundation in Palo Alto , CA and we will arrange with your Ophthalmic consultant for collection of the samples. Thank you. Dr. Jeremy D. Rhodes. The Norwich Eye Group, School of Biological Sciences, University of East Anglia, Norwich, NR4 7TJ, UK |
Dental Needs of Patients with DM
Because of the nature of Myotonic Dystrophy, patients need increased dental care. This can come in several forms but the decreased amount of muscle strength can affect the person with DM. They may have more plaque and need more frequnet brushing and dental hygiene. We have found a few articles and stories that focus on dental care that you may wish to review. Print out the first one and take it to your dentist.
DIABETES
This page will try and summarize information on myotonic dystrophy and diabetes.
Study:
Pathogenesis of Diabetics in Myotonic Dystrophy.
Myotonic dystrophy (MD) is the most common adult form of muscular dystrophy with an estimated prevalence of 1 in 8000 and is often complicated by diabetes. MD is dominantly inherited and is due to heterozygosity for a tri-nucleotide repeat expansion mutation in a protein kinase gene and it was suggested that this induces derangement of RNA metabolism also able to reduce insulin receptor expression. To test whether the abnormal RNA metabolism or a specific malfunction of protein kinase gene may induce insulin resistance prior to the onset of diabetes, we studied 5 glucose-tolerant MD patients (3F/2M, 41 [+ or -] 8yrs, 59 [+ or -] 7 kg, BMI21 [+ or -] 2 kg/[m.sup.2]) and 5 matched healthy subjects, by means of a) dual x-ray energy absorption b) euglycemic-hyperinsulinemic clamp (1 mU/kg/min) c) primed-continuous infusion of 6,6-[d.sup.2]-glucose and I-[sup.13]C-leucine d) indirect calorimetry. Fasting plasma insulin were similar, but proinsulin concentrations were increased in M!
D patients (p=0.01) and the ratio intact proinsulin/insulin (20 [+ or -] 4% vs 5 [+ or -] 1%; p=0.01) was 4-fold higher in MD. MD showed increased body fat mass (35 [+ or -] 5 vs 26 [+ or -] 2%; p=0.05) but lipid oxidation and FFA concentration in the post absorptive and clamp conditions were comparable between the two groups. Glucose metabolism (oxidative and non-oxidative) during insulin stimulation was comparable to normals (6.9 [+ or -] 1.4 vs 8.2 [+ or -] 1.1 mg/]kg FFM.min]; p=0.49). Leucine flux in the post absorptive condition was slightly increased and its sensitivity to insulin was impaired in MD (suppression =8[+ or -]2 vs 19 [+ or -] 2%; p=0.05); also suppression of plasma glutamine (8 [+ or -] 5%) and phenylalanine (8 [+ or -] 2%) concentrations during the clamp were similar than in normals (33 [+ or -] 7 and 15 [+ or] 3% respectively; p=0.05). In summary, MD showed alterations of protein metabolism in both post absorptive and insulin stimulated conditions resulti!
ng in increased proteolysis and muscle wasting. Insulin dependent glucose metabolism is preserved; therefore insulin resistance for glucose is not a major factor in the pathogenesis of diabetes in MD. On the contrary, abnormal insulin cleavage leading to increased proinsulin levels, probably related to specific protein kinase gene malfunction, represents a marker of secretory dysfunction capable to induce diabetes mellitus.
GIANLUCA PERSEGHIN, MAURO COMOLA, CINZIA ARCELLONI, EMANUELA PAGLIATO, ROBERTO LANZI, ALBERTO BATTEZZATI(*), LIVIO LUZI(*), Milan, Italy
(*) ADA Professional Section Member. See Duality of Interest Information.
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